Familial hypercholesterolaemia

被引：1

作者：

McErlean, Sarah ^{[1
]}

Mbakaya, Balwani ^{[2
,3
]}

Kennedy, Cormac ^{[4
,5
,6
]}

机构：

[1] Univ Coll Dublin, UCD Sch Med, Dept Gen Practice, Dublin, Ireland

[2] Univ Livingstonia, Fac Appl Sci, Publ Hlth Dept, Ekwendeni, Malawi

[3] Mzuzu Univ, Fac Sci, Biol Sci Dept, Technol & Innovat, Mzuzu, Malawi

[4] Trinity Coll Dublin, Sch Med, Dept Pharmacol, Dublin, Ireland

[5] St James Hosp, Dept Pharmacol, Dublin, Ireland

[6] St James Hosp, HRB Clin Res Facil, Dublin, Ireland

来源：

BMJ-BRITISH MEDICAL JOURNAL | 2023年 / 382卷

关键词：

CARDIOVASCULAR-DISEASE; PREVALENCE; STATEMENT; EZETIMIBE;

D O I：

10.1136/bmj-2022-073280

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial hypercholesterolaemia is caused by a functional mutation that impairs LDL receptor-mediated uptake of the LDL particle, therefore resulting in higher LDL cholesterol in the bloodstream.67 Most of those affected (85-90%) have a mutation in the LDL receptor gene.68 Familial hypercholesterolaemia can be classified as heterozygous or homozygous depending on the presence of one or two affected gene alleles.9 However, the heterozygous form is common, whereas the homozygous form is very rare. © Published by the BMJ Publishing Group Limited.

引用

页数：7

共 50 条

[1] The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes
Mariano, Cibelle
Alves, Ana Catarina
Medeiros, Ana Margarida
Chora, Joana Rita
Antunes, Marilia
Futema, Marta
Humphries, Steve E.
Bourbon, Mafalda
CLINICAL GENETICS, 2020, 97 (03) : 457 - 466
[2] FAMILIAL HYPERCHOLESTEROLAEMIA
WOLFF, OH
PEDIATRIC RESEARCH, 1970, 4 (02) : 218 - &
[3] Familial hypercholesterolaemia
Nair, Devaki R.
Sharifi, Mahtab
Al-Rasadi, Khalid
CURRENT OPINION IN CARDIOLOGY, 2014, 29 (04) : 381 - 388
[4] Familial hypercholesterolaemia
Defesche, Joep C.
Gidding, Samuel S.
Harada-Shiba, Mariko
Hegele, Robert A.
Santos, Raul D.
Wierzbicki, Anthony S.
NATURE REVIEWS DISEASE PRIMERS, 2017, 3
[5] Familial hypercholesterolaemia
Joep C. Defesche
Samuel S. Gidding
Mariko Harada-Shiba
Robert A. Hegele
Raul D. Santos
Anthony S. Wierzbicki
Nature Reviews Disease Primers, 3
[6] Familial hypercholesterolaemia
Nature Reviews Disease Primers, 3 (1)
[7] FAMILIAL HYPERCHOLESTEROLAEMIA
不详
LANCET, 1956, 271 (OCT13): : 771 - 771
[8] Familial hypercholesterolaemia
Blom, D. J.
SOUTH AFRICAN FAMILY PRACTICE, 2011, 53 (01) : 11 - 18
[9] Familial hypercholesterolaemia
Vohnout, B
Raslová, K
Gasparovic, J
Donati, MB
Iacoviello, L
LANCET, 2001, 357 (9269): : 1712 - 1712
[10] Familial hypercholesterolaemia
Manning, Serena
Oakeshott, Pippa
BRITISH JOURNAL OF GENERAL PRACTICE, 2009, 59 (569): : 944 - 945

← 1 2 3 4 5 →